Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
✍ Scribed by Neal J. Weinreb; Mario C. Aggio; Hans C. Andersson; Generoso Andria; Joel Charrow; Joe T.R. Clarke; Anders Erikson; Pilar Giraldo; Jack Goldblatt; Carla Hollak; Hiroyuki Ida; Paige Kaplan; Edwin H. Kolodny; Pramod Mistry; Gregory M. Pastores; Ricardo Pires; Ainu Prakesh-Cheng; Barry E. Rosenbloom; C. Ronald Scott; Elisa Sobreira; Anna Tylki-Szymańska; Ashok Vellodi; Stephan vom Dahl; Rebecca S. Wappner; Ari Zimran
- Book ID
- 117821830
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 116 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1532-8686
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Human plasma chitotriosidase (Chito) is a useful diagnostic and therapeutic biomarker for Type 1 Gaucher disease (GD). However, approximately 40% of Caucasians are heterozygous or homozygous for a common null mutation, c.1049\_1072dup24 (dup24) in the chitotriosidase gene (chitinase 1, CHIT1), that